Our pedigree analysis, however, appears to dispute this, with five individuals compound heterozygous for the pathogenic TYR p.(Met252Arg) variant as well as the p.(Arg402Gln) variant and yet showing no clinical features of OCA (individuals VIII:9, IX:2, IX:21, X:6 and X:8; Fig. 1a). The gene discussed is TYR; the disease is oculocutaneous albinism.